BRCA2 T2722R Is a Deleterious Allele That Causes Exon Skipping
Author:
Publisher
Elsevier BV
Subject
Genetics (clinical),Genetics
Reference41 articles.
1. Risk models for familial ovarian and breast cancer;Antoniou;Genet Epidemiol,2000
2. Listening to silence and understanding nonsense: exonic mutations that affect splicing;Cartegni;Nat Rev Genet,2002
3. Disruption of an SF2/ASF-dependent exonic splicing enhancer in SMN2 causes spinal muscular atrophy in the absence of SMN1;Cartegni;Nat Genet,2002
4. BRCA1 mutations in women attending clinics that evaluate the risk of breast cancer;Couch;N Engl J Med,1997
5. Risks of cancer in BRCA1-mutation carriers. Breast Cancer Linkage Consortium;Ford;Lancet,1994
Cited by 81 articles. 订阅此论文施引文献 订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献
1. Recognition of functional genetic polymorphism using ESE motif definition: a conservative evolutionary approach to CYP2D6/CYP2C19 gene variants;Genetica;2022-08-01
2. Therapeutic Drug Monitoring of Antifungal Agents in Critically Ill Patients: Is There a Need for Dose Optimisation?;Antibiotics;2022-05-12
3. Evidence in disease and non-disease contexts that nonsense mutations cause altered splicing via motif disruption;Nucleic Acids Research;2021-09-01
4. Knockin mouse model of the human CFL2 p.A35T mutation results in a unique splicing defect and severe myopathy phenotype;Human Molecular Genetics;2020-03-11
5. An intronic variation in SLC52A1 causes exon skipping and transient riboflavin-responsive multiple acyl-CoA dehydrogenation deficiency;Molecular Genetics and Metabolism;2017-12
1.学者识别学者识别
2.学术分析学术分析
3.人才评估人才评估
"同舟云学术"是以全球学者为主线，采集、加工和组织学术论文而形成的新型学术文献查询和分析系统，可以对全球学者进行文献检索和人才价值评估。用户可以通过关注某些学科领域的顶尖人物而持续追踪该领域的学科进展和研究前沿。经过近期的数据扩容，当前同舟云学术共收录了国内外主流学术期刊6万余种，收集的期刊论文及会议论文总量共计约1.5亿篇，并以每天添加12000余篇中外论文的速度递增。我们也可以为用户提供个性化、定制化的学者数据。欢迎来电咨询！咨询电话：010-8811{复制后删除}0370
www.globalauthorid.com
TOP
Copyright © 2019-2024 北京同舟云网络信息技术有限公司 京公网安备11010802033243号 京ICP备18003416号-3